MCID: LMT001
MIFTS: 51

Limited Scleroderma

Categories: Bone diseases, Immune diseases, Nephrological diseases, Rare diseases, Respiratory diseases, Skin diseases

Aliases & Classifications for Limited Scleroderma

MalaCards integrated aliases for Limited Scleroderma:

Name: Limited Scleroderma 12 15
Limited Cutaneous Systemic Sclerosis 12 53 59
Systemic Sclerosis Sine Scleroderma 53 59 73
Limited Cutaneous Systemic Scleroderma 53 59
Limited Systemic Sclerosis 53 59
Scleroderma, Limited 44 73
Progressive Systemic Sclerosis Sine Scleroderma 53
Systemic Sclerosis, Limited 12
Scleroderma, Sine 53
Crest Syndrome 73

Characteristics:

Orphanet epidemiological data:

59
limited cutaneous systemic sclerosis
Inheritance: Multigenic/multifactorial,Not applicable; Age of onset: Adult; Age of death: adult;
limited systemic sclerosis
Inheritance: Not applicable; Age of onset: Adult;

Classifications:



Summaries for Limited Scleroderma

NIH Rare Diseases : 53 Limited cutaneous systemic sclerosis is a subtype of systemic sclerosis characterized by the association of Raynaud's phenomenon and skin fibrosis on the hands, face, feet and forearms. The exact cause of limited cutaneous systemic sclerosis is unknown, but likely originates from an autoimmune reaction which leads to overproduction of collagen. In some cases, the condition is associated with exposure to certain chemicals. Management is aimed at treating the symptoms present in each affected individual. 

MalaCards based summary : Limited Scleroderma, also known as limited cutaneous systemic sclerosis, is related to crest syndrome and diffuse cutaneous systemic sclerosis. An important gene associated with Limited Scleroderma is CAV1 (Caveolin 1), and among its related pathways/superpathways are NF-kappaB Signaling and Immune response IFN alpha/beta signaling pathway. The drugs Ambrisentan and Antihypertensive Agents have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and thyroid, and related phenotypes are dysphagia and nausea and vomiting

Related Diseases for Limited Scleroderma

Diseases related to Limited Scleroderma via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 102)
# Related Disease Score Top Affiliating Genes
1 crest syndrome 32.3 CENPB TOP1 UBTF
2 diffuse cutaneous systemic sclerosis 29.8 CAV1 CCN2 CCR6 HLA-DRB1 IFI16 IRF5
3 diffuse scleroderma 29.7 MNDA PYHIN1 TOP1
4 systemic scleroderma 29.4 CCN2 CENPA CENPB SNRNP70 TOP1
5 systemic lupus erythematosus 29.2 CENPB HLA-DRB1 IL2 IL2RA IRF5 KIAA0319L
6 reynolds syndrome 11.2
7 rheumatoid factor-negative juvenile idiopathic arthritis 10.2 HLA-DRB1 IL2RA
8 pure red-cell aplasia 10.1 HLA-DRB1 IL2 IL2RA
9 recurrent respiratory papillomatosis 10.1 HLA-DRB1 IL2
10 mumps 10.1 HLA-DRB1 IL2 IL2RA
11 dyskinesia of esophagus 10.1 CENPB TOP1 UBTF
12 wolff-parkinson-white syndrome 10.1
13 dermatomyositis 10.1
14 uveitis 10.1
15 pulmonary systemic sclerosis 10.1
16 antiphospholipid syndrome 10.1
17 anterior uveitis 10.1
18 linear scleroderma 10.1
19 polymyositis 10.1
20 autoimmune disease 10.1 CENPB HLA-DRB1 IL2 IL2RA IRF5
21 sarcoidosis 1 10.0 HLA-DRB1 IL2 IL2RA
22 berylliosis 10.0 HLA-DRB1 IL2
23 scleroderma, familial progressive 10.0
24 pulmonary hypertension 10.0
25 pulmonary hypertension, primary, 1 10.0
26 arthritis 10.0
27 cardiac tamponade 10.0
28 autoimmune disease of musculoskeletal system 10.0 CENPB IL2 IRF5 SNRNP70 TOP1
29 rheumatic disease 10.0 CENPA CENPB HLA-DRB1 IL2RA TOP1
30 pulmonary fibrosis 9.9
31 nephrotic syndrome 9.9
32 anca-associated vasculitis 9.9
33 leiomyosarcoma 9.9
34 collagen disease 9.9 CCN2 CENPA CENPB SNRNP70 TOP1
35 biliary cirrhosis, primary, 1 9.9
36 glomerulonephritis 9.9
37 primary biliary cirrhosis 9.9
38 calcinosis 9.9
39 vasculitis 9.9
40 primary biliary cholangitis 9.9
41 hemopericardium 9.9
42 pericardial effusion 9.9
43 connective tissue disease 9.9 CCN2 CENPB CENPC HLA-DRB1 SNRNP70 TOP1
44 arteries, anomalies of 9.9
45 breast cancer 9.9
46 myositis 9.9
47 rheumatoid arthritis 9.9
48 temporal arteritis 9.9
49 myocardial infarction 9.9
50 aplastic anemia 9.9

Graphical network of the top 20 diseases related to Limited Scleroderma:



Diseases related to Limited Scleroderma

Symptoms & Phenotypes for Limited Scleroderma

Human phenotypes related to Limited Scleroderma:

59 32 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dysphagia 59 32 frequent (33%) Frequent (79-30%) HP:0002015
2 nausea and vomiting 59 32 frequent (33%) Frequent (79-30%) HP:0002017
3 gastroesophageal reflux 59 32 frequent (33%) Frequent (79-30%) HP:0002020
4 pulmonary fibrosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002206
5 pulmonary arterial hypertension 59 32 occasional (7.5%) Occasional (29-5%) HP:0002092
6 autoimmunity 59 32 hallmark (90%) Very frequent (99-80%) HP:0002960
7 skin ulcer 59 32 frequent (33%) Frequent (79-30%) HP:0200042
8 hypopigmented skin patches 59 32 hallmark (90%) Very frequent (99-80%) HP:0001053
9 mucosal telangiectasiae 59 32 frequent (33%) Frequent (79-30%) HP:0100579
10 telangiectasia of the skin 59 32 frequent (33%) Frequent (79-30%) HP:0100585
11 contractures involving the joints of the feet 59 32 occasional (7.5%) Occasional (29-5%) HP:0008366
12 joint contracture of the hand 59 32 occasional (7.5%) Occasional (29-5%) HP:0009473
13 narrow foramen obturatorium 59 32 hallmark (90%) Very frequent (99-80%) HP:0100958
14 abnormality of skin pigmentation 59 Very frequent (99-80%)
15 abnormality of the skin 59 Very frequent (99-80%)

Drugs & Therapeutics for Limited Scleroderma

Drugs for Limited Scleroderma (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ambrisentan Approved, Investigational Not Applicable 177036-94-1 6918493
2 Antihypertensive Agents Not Applicable
3 Mitogens
4 Immunologic Factors
5 Autoantibodies

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Non-Interventional Pilot Study Assessing Whether Lysyl Oxidase-like 2 (LOXL2) is Present in Subjects With Scleroderma Completed NCT01881529
2 Efficacy of Ambrisentan in Limited Scleroderma Patients in Improving Blood Flow to Hands or Feet Completed NCT01072669 Not Applicable ambrisentan
3 Stimulatory Autoantibodies to the Platelet-Derived Growth Factor Receptor (PDGFR) in Patients With Systemic Sclerosis Completed NCT00667134
4 Systemic Sclerosis Clinical and Biomarker Study Withdrawn NCT02531009

Search NIH Clinical Center for Limited Scleroderma

Cochrane evidence based reviews: scleroderma, limited

Genetic Tests for Limited Scleroderma

Anatomical Context for Limited Scleroderma

MalaCards organs/tissues related to Limited Scleroderma:

41
Skin, Bone, Thyroid, Lung, Heart, T Cells, Myeloid

Publications for Limited Scleroderma

Articles related to Limited Scleroderma:

(show top 50) (show all 110)
# Title Authors Year
1
Lymphedema secondary to limited cutaneous systemic sclerosis. ( 29909388 )
2018
2
Radiological pleuroparenchymal fibroelastosis associated to limited cutaneous systemic sclerosis: a case report. ( 29776440 )
2018
3
Assessing the response of morphea and limited scleroderma to tranilast: a small prospective study comparing topical corticosteroids to a combination of topical corticosteroids and tranilast. ( 30013378 )
2018
4
Unexpected acute lymphocytic virus-negative myocarditis in a patient with limited cutaneous systemic sclerosis: a case report. ( 30269630 )
2018
5
Spontaneous pneumomediastinum in limited cutaneous systemic sclerosis and myositis overlap. ( 30065052 )
2018
6
Severe gangrene in a patient with anti-RNP positive limited cutaneous systemic sclerosis/rheumatoid arthritis overlap syndrome caused by vasculopathy and vasculitis. ( 30071937 )
2018
7
Anti-RNA polymerase III antibody-associated scleroderma renal crisis in a patient with limited cutaneous systemic sclerosis: A case report. ( 26942857 )
2018
8
Changes in disability and their relationship with skin thickening, in diffuse and limited cutaneous systemic sclerosis: a retrospective cohort study. ( 30394164 )
2018
9
The effects of upper and lower limb exercise on the microvascular reactivity in limited cutaneous systemic sclerosis patients. ( 29871697 )
2018
10
Calcific prepatellar bursitis in a patient with limited cutaneous systemic sclerosis. ( 29228498 )
2017
11
Severe Calcinosis in Limited Cutaneous Systemic Sclerosis. ( 28824081 )
2017
12
Cutaneous calcinosis in a patient with limited scleroderma: CREST Syndrome. ( 29308290 )
2017
13
Limited cutaneous systemic sclerosis arising in a patient with Graves' disease. ( 28130289 )
2017
14
Improvement of peripheral artery disease with Sildenafil and Bosentan combined therapy in a patient with limited cutaneous systemic sclerosis: A case report. ( 28640077 )
2017
15
Limited cutaneous systemic sclerosis skin demonstrates distinct molecular subsets separated by a cardiovascular development gene expression signature. ( 28676069 )
2017
16
Morphea Sculpted in Silica: A Case Report of Limited Cutaneous Systemic Sclerosis in a Woman with Long-Time Exposure to Silica Dust. ( 28786264 )
2017
17
Subclinical dermal involvement is detectable by high frequency ultrasound even in patients with limited cutaneous systemic sclerosis. ( 28320447 )
2017
18
Nailfold digital capillaroscopic findings in patients with diffuse and limited cutaneous systemic sclerosis. ( 28386138 )
2017
19
Anticentriole antibody-positive limited cutaneous systemic sclerosis. ( 28186355 )
2017
20
Anti-RNA polymerase III antibody positive limited cutaneous systemic sclerosis with cryoglobulin-induced digital gangrene. ( 27739106 )
2017
21
Proteomic Investigation of Dermal Fibroblasts Isolated from Affected and Unaffected Skin Samples from Patients with Limited Cutaneous Systemic Sclerosis: 2 Distinct Entities? ( 27909082 )
2017
22
Hydroxychloroquine-induced cardiomyopathy in a patient with limited cutaneous systemic sclerosis. ( 28004183 )
2017
23
Fluoroscopy-guided intra-articular steroid injection for sternoclavicular joint arthritis secondary to limited cutaneous systemic sclerosis: a case report. ( 28119772 )
2017
24
Active subcutaneous calcinosis demonstrated by fluorine-18 fluorodeoxyglucose positron emission tomography/computed tomography in a case of limited cutaneous systemic sclerosis. ( 27095870 )
2016
25
Fibrillary glomerulonephritis associated with limited scleroderma: a case report. ( 26709524 )
2016
26
Upper gastrointestinal bleeding (watermelon stomach) in a patient with limited scleroderma (CREST syndrome). ( 27353193 )
2016
27
Systemic sclerosis - a multi-purpose use of ultrasound: Editorial comment on: G. PracoA8, M. PA8aza, M. Walentowska-Janowicz, I. SudoA8-SzopiA8ska The value of ultrasound in the diagnosis of limited scleroderma - a case report. ( 27104009 )
2016
28
Successful long-term (22 Year) treatment ofA limited scleroderma using therapeutic plasma exchange: Is blood rheology theA key? ( 27340761 )
2016
29
Left atrial impression by a dilated oesophagus in a patient with limited cutaneous systemic sclerosis. ( 26823346 )
2016
30
Peripheral arterial bypass surgery for intractable wounds caused by limited cutaneous systemic sclerosis. ( 27129608 )
2016
31
Survival and organ involvement in patients with limited cutaneous systemic sclerosis and anti-topoisomerase-I antibodies: determined by skin subtype or auto-antibody subtype? A long-term follow-up study. ( 27520796 )
2016
32
The HLA-B*35 allele modulates ER stress, inflammation and proliferation in PBMCs from Limited Cutaneous Systemic Sclerosis patients. ( 26669670 )
2015
33
The value of ultrasound in the diagnosis of limited scleroderma - a case report. ( 26675049 )
2015
34
Osteonecrosis of Multiple Joints in a Patient With Limited Scleroderma/CREST Syndrome. ( 25807102 )
2015
35
Increased Serum Levels of the IL-33 Neutralizing sST2 in Limited Cutaneous Systemic Sclerosis. ( 26095613 )
2015
36
Raynaud's phenomenon in limited cutaneous systemic sclerosis. ( 26715139 )
2015
37
Pulsed versus continuous wave low-level light therapy on osteoarticular signs and symptoms in limited scleroderma (CREST syndrome): a case report. ( 25393970 )
2014
38
Serum levels of soluble carbonic anhydrase IX are decreased in patients with diffuse cutaneous systemic sclerosis compared to those with limited cutaneous systemic sclerosis. ( 25030848 )
2014
39
Systemic sclerosis sine scleroderma and limited cutaneous systemic sclerosis: similarities and differences. ( 24776173 )
2014
40
Longitudinal melanonychia associated with limited cutaneous systemic sclerosis. ( 24561421 )
2014
41
Increased expression of endoplasmic reticulum stress and unfolded protein response genes in peripheral blood mononuclear cells from patients with limited cutaneous systemic sclerosis and pulmonary arterial hypertension. ( 23400395 )
2013
42
Limited scleroderma with pauci-immune glomerulonephritis in the presence of renal cell carcinoma. ( 23656799 )
2013
43
A case of neuromyelitis optica spectrum disorder associated with a limited cutaneous systemic sclerosis and SjAPgren syndrome. ( 24097316 )
2013
44
Improved survival in limited scleroderma-related pulmonary artery hypertension. ( 23361526 )
2013
45
Infected calcinosis of the knee in limited cutaneous systemic sclerosis. ( 23028028 )
2012
46
Pauci-immune crescentic glomerulonephritis in limited cutaneous systemic sclerosis. ( 22644090 )
2012
47
Increased prevalence of anti-thyroid antibodies in patients with limited scleroderma: comments on the article by Danielides et al. ( 22548259 )
2012
48
Increased prevalence of anti-thyroid antibodies in patients with limited scleroderma. ( 21417550 )
2011
49
Spontaneous pneumomediastinum in a patient with anti-centromere antibody-positive limited scleroderma. ( 21169848 )
2011
50
Lumbar canal spinal stenosis due to axial skeletal calcinosis and heterotopic ossification in limited cutaneous systemic sclerosis: successful spinal decompression. ( 21875878 )
2011

Variations for Limited Scleroderma

Expression for Limited Scleroderma

Search GEO for disease gene expression data for Limited Scleroderma.

Pathways for Limited Scleroderma

GO Terms for Limited Scleroderma

Cellular components related to Limited Scleroderma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chromosome GO:0005694 9.65 CENPA CENPB CENPC CENPS TOP1
2 kinetochore GO:0000776 9.58 CENPA CENPC CENPS
3 condensed chromosome kinetochore GO:0000777 9.54 CENPA CENPC CENPS
4 chromosome, centromeric region GO:0000775 9.46 CENPA CENPB CENPC CENPS
5 condensed nuclear chromosome kinetochore GO:0000778 9.32 CENPA CENPC
6 condensed nuclear chromosome, centromeric region GO:0000780 9.13 CENPA CENPB CENPC
7 nuclear pericentric heterochromatin GO:0031618 8.8 CENPA CENPB CENPC

Biological processes related to Limited Scleroderma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 immune system process GO:0002376 9.83 HLA-DRB1 IFI16 IL2 IL2RA IRF5
2 positive regulation of T cell differentiation GO:0045582 9.46 IL2 IL2RA
3 regulation of regulatory T cell differentiation GO:0045589 9.4 IL2 IL2RA
4 inflammatory response to antigenic stimulus GO:0002437 9.37 HLA-DRB1 IL2RA
5 CENP-A containing nucleosome assembly GO:0034080 9.33 CENPA CENPC CENPS
6 interleukin-2-mediated signaling pathway GO:0038110 9.32 IL2 IL2RA
7 negative regulation of lymphocyte proliferation GO:0050672 9.26 IL2 IL2RA
8 regulation of T cell homeostatic proliferation GO:0046013 8.96 IL2 IL2RA
9 kinetochore assembly GO:0051382 8.8 CENPA CENPC CENPS

Molecular functions related to Limited Scleroderma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.81 CENPA CENPB CENPC CENPS IFI16 IRF5
2 double-stranded DNA binding GO:0003690 9.43 CENPS IFI16 TOP1
3 chromatin binding GO:0003682 9.35 CENPA CENPB CENPS TOP1 UBTF
4 centromeric DNA binding GO:0019237 8.62 CENPB CENPC

Sources for Limited Scleroderma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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